OBO ID: DOID:0050716
Term Name: methylmalonic aciduria and homocystinuria type cblD Search Ontology:
Synonyms:
  • Cobalamin D deficiency
  • MAHCD
Definition: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (2)
References:
Ontology: Human Disease   ( DOID:0050716 )
Relationships
is a type of:
OTHER methylmalonic aciduria and homocystinuria type cblD PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MMADHC Methylmalonic aciduria and homocystinuria, cblD type 277410
Methylmalonic aciduria, cblD type, variant 2 277410
Homocystinuria, cblD type, variant 1 277410
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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